Varaico: Literature-Extracted Genetic Variants

LZTR1

643 papers

RefSeq Summary

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the enco...

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 70–280UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_KLHDC2_KLHL20_DRC7aa 215–342UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

BTBaa 433–574UCSCBTB/POZ domain

BTBaa 658–767UCSCBTB/POZ domain

Gene Aliases

HGNC Name

leucine zipper like post translational regulator 1

HGNC Alias Symbols

LZTR-1; BTBD29

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006767.4

p.E211E

c.633G>A

Surrounding Variants

1 paper

NM_006767.4

p.E211K

c.631G>A

1 paper

NM_006767.4

p.T213delFs

c.639delC

37 papers

NM_006767.4

p.R210*

c.628C>T

1 paper

NM_006767.4

p.C214fs

c.640_641fs

1 paper

NM_006767.4

p.W215*

c.644G>A

2 papers

NM_006767.4

p.E216_E217del0

c.646_651del6

1 paper

NM_006767.4

p.W215*

c.645G>A

7 papers

NM_006767.4

p.E217A

c.650A>C

1 paper

NM_006767.4

p.E217_V218Splc

c.651+1G>A

1 paper

NM_006767.4

p.E217_V218Splc

c.651+1G>T

5 papers

NM_006767.4

p.I205T

c.614T>C

1 paper

NM_006767.4

p.W203*

c.609G>A